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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612009_87612017delinsATTTGTGTG , CM000666.2:g.87612009_87612017delinsATTTGTGTG
GRCh38
NC_000004.11:g.88533161_88533169delinsATTTGTGTG , CM000666.1:g.88533161_88533169delinsATTTGTGTG
GRCh37
NC_000004.10:g.88752185_88752193delinsATTTGTGTG
NCBI36
NG_011595.1:g.8481_8489delinsATTTGTGTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-96_52-88delinsATTTGTGTG
MANE Select
ENSP00000498766.1:n.52-96_52-88delinsATTT...
ENST00000282478.7:c.52-96_52-88delinsATTTGTGTG
ENSP00000282478.7:n.52-96_52-88delinsATTT...
ENST00000399271.5:c.52-96_52-88delinsATTTGTGTG
ENSP00000382213.1:n.52-96_52-88delinsATTT...
NM_014208.3:c.52-96_52-88delinsATTTGTGTG
MANE Select
NP_055023.2:n.52-96_52-88delinsATTTGTGTG